Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Smith-Lemli-Opitz-Syndrom

Das Smith-Lemli-Opitz-Syndrom ist ein autosomal rezessives Fehlbildungssyndrom mit mentaler Retardierung. Mutationen im DHCR7-Gen sind verantwortlich.

Gliederung

Angeborene Fehlbildungen des Urogenitalsystems
Akro-reno-okuläres Syndrom
Autosomal dominantes Robinow-Syndrom 1
BMP7
BNAR-Syndrom
Branchio-okulo-faziales Syndrom
Branchio-oto-renale Dysplasie
Branchiootische Syndrom
CHARGE-Syndrom
CHD1L
Denys-Drash-Syndrom
Fraser-Syndrom
Frasier-Syndrom
Goldberg-Shprintzen-Syndrom
Hirnmalformation mit Urogenitaldefekten
IVIC-Syndrom
Ivemark-Syndrom
Kabuki-Syndrom
Kongenitale Anomalien der Niere und des Harntraktes 1
Kongenitale Anomalien der Niere und des Harntraktes 2
Kongenitaler hypogonadotroper Hypogonadismus mit Anosmie 1
Kongenitaler hypogonadotroper Hypogonadismus ohne Anosmie 5
Lakrimo-aurikulo-dento-digitales Syndrom
Mowat-Wilson-Syndrom
Neigung zu zystischen Nierenfehlbildung
Nierenzysten und Diabetes (RCAD)
Papillorenales Syndrom
Renal Dysplasie mit Hypopituitarismus und Diabetes
Renal-hepatisch-pankreatische Dysplasie
Renale Hypodysplasie/Aplasie
Renotubuläre Dysgenesie
SERKAL-Syndrom
Simpson-Golabi-Behmel-Syndrom
Smith-Lemli-Opitz-Syndrom
DHCR7
Somatisches Nephroblastom
Syndromische Microphthalmie 6
Tränen- und Speicheldrüsenaplasie
Urofaziales Syndrom
Vesicoureteraler Reflux
WAGR-Syndrom

Referenzen:

1.

Shefer S et. al. (1995) Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.

[^]
2.

Porter JA et. al. (1996) Cholesterol modification of hedgehog signaling proteins in animal development.

[^]
3.

Wassif CA et. al. (1998) Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

[^]
4.

Fitzky BU et. al. (1998) Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.

[^]
5.

Nowaczyk MJ et. al. (1998) Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings.

[^]
6.

Yu H et. al. (2000) Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi.

[^]
7.

Yu H et. al. (2000) Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.

[^]
8.

Witsch-Baumgartner M et. al. (2001) Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.

[^]
9.

Wassif CA et. al. (2001) Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome.

[^]
10.

Nowaczyk MJ et. al. (2001) DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome.

[^]
11.

Nowaczyk MJ et. al. (2001) Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.

[^]
12.

Langius FA et. al. (2003) Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.

[^]
13.

Kovarova M et. al. (2006) Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness.

[^]
14.

Witsch-Baumgartner M et. al. (2008) Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

[^]
15.

Koo G et. al. (2010) Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.

[^]
16.

Kalb S et. al. (2012) High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey.

[^]
17.

Witsch-Baumgartner M et. al. (2004) Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.

[^]
18.

Lazarin GA et. al. (2013) An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

[^]
19.

Roux C et. al. (1979) Teratogenic action and embryo lethality of AY 9944R. Prevention by a hypercholesterolemia-provoking diet.

[^]
20.

None (1975) Smith-Lemli-Opitz syndrome: review and report of two affected siblings.

[^]
21.

Fierro M et. al. (1977) Smith-Lemli-Opitz syndrome: neuropathological and ophthalmological observations.

[^]
22.

Cherstvoy ED et. al. () The pathological anatomy of the Smith-Lemli-Opitz syndrome.

[^]
23.

Fukazawa R et. al. () Normal Y sequences in Smith-Lemli-Opitz syndrome with total failure of masculinization.

[^]
24.

Lachman MF et. al. (1991) Brief clinical report: a 46,XY phenotypic female with Smith-Lemli-Opitz syndrome.

[^]
25.

McKeever PA et. al. (1990) Smith-Lemli-Opitz syndrome. II: A disorder of the fetal adrenals?

[^]
26.

Berry R et. al. (1989) Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1).

[^]
27.

Chasalow FI et. al. () Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents.

[^]
28.

Bialer MG et. al. (1987) Female external genitalia and müllerian duct derivatives in a 46,XY infant with the smith-lemli-Opitz syndrome.

[^]
29.

Opitz JM et. al. (1987) Smith-Lemli-Opitz (RSH) syndrome bibliography.

[^]
30.

Joseph DB et. al. (1987) Genitourinary abnormalities associated with the Smith-Lemli-Opitz syndrome.

[^]
31.

Scarbrough PR et. al. (1986) An additional case of Smith-Lemli-Opitz syndrome in a 46,XY infant with female external genitalia.

[^]
32.

Curry CJ et. al. (1987) Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality.

[^]
33.

Belmont JW et. al. (1987) Two cases of severe lethal Smith-Lemli-Opitz syndrome.

[^]
34.

Donnai D et. al. (1986) The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs.

[^]
35.

Fried K et. al. (1972) Smith-Lemli-Opitz syndrome in an adult.

[^]
36.

Cotlier E et. al. (1971) Cataracts in the Smith-Lemli-Opitz syndrome.

[^]
37.

Suzuki K et. al. (1971) Cellular degeneration in developing central nervous system of rats produced by hypocholesteremic drug AY9944.

[^]
38.

None (1969) Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance.

[^]
39.

Deaton JG et. al. (1973) Smith-Lemli-Optiz syndrome in a 23-year-old man.

[^]
40.

Nevo S et. al. (1972) Smith-Lemli-Opitz syndrome in an inbred family.

[^]
41.

Hoefnagel D et. al. (1969) The Smith-Lemli-Opitz syndrome in an adult male.

[^]
42.

Lowry RB et. al. (1968) Micrognathia, polydactyly, and cleft palate.

[^]
43.

Blair HR et. al. (1966) A syndrome characterized by mental retardation, short stature, craniofacial dysplasia, and genital anomalies occurring in siblings.

[^]
44.

Dallaire L et. al. (1966) The syndrome of retardation with urogenital and skeletal anomalies in siblings.

[^]
45.

Kenis H et. al. (1967) A familial syndrome of mental retardation in association with multiple congenital anomalies resembling the syndrome of Smith-Lemli-Opitz.

[^]
46.

Rutledge JC et. al. (1984) A "new" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations.

[^]
47.

Greene C et. al. (1984) Smith-Lemli-Opitz syndrome in two 46,XY infants with female external genitalia.

[^]
48.

None (1983) Brief clinical report: familial neonatally lethal syndrome of hypoplastic left heart, absent pulmonary lobation, polydactyly, and talipes, probably Smith-Lemli-Opitz (RSH) syndrome.

[^]
49.

None (1983) Editorial comment: variability in the Smith-Lemli-Opitz syndrome: overlap with the Meckel syndrome.

[^]
50.

Patterson K et. al. (1983) Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome.

[^]
51.

Tint GS et. al. (1995) Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome.

[^]
52.

Opitz JM et. al. (1994) Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference.

[^]
53.

Irons M et. al. (1993) Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

[^]
54.

Alley TL et. al. (1995) Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient.

[^]
55.

Xu G et. al. (1995) Reproducing abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome by inhibiting the conversion of 7-dehydrocholesterol to cholesterol in rats.

[^]
56.

Johnson JA et. al. (1994) Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II.

[^]
57.

McGaughran J et. al. (1994) Diagnosis of Smith-Lemli-Opitz syndrome.

[^]
58.

Opitz JM et. al. (1994) Smith-Lemli-Opitz (RSH) syndrome bibliography: 1964-1993.

[^]
59.

Irons M et. al. (1994) Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient.

[^]
60.

Wallace M et. al. (1994) Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: probable disruption of an SLOS gene.

[^]
61.

None (1993) Cholesterol defect in Smith-Lemli-Opitz syndrome.

[^]
62.

Tint GS et. al. (1994) Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.

[^]
63.

Hyett JA et. al. (1995) Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome.

[^]
64.

Dallaire L et. al. (1995) Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid.

[^]
65.

Salen G et. al. (1996) Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.

[^]
66.

De Die-Smulders C et. al. (1996) Confirmation of defective cholesterol biosynthesis in 2 previously described adult sibs with Smith-Lemli-Opitz syndrome.

[^]
67.

Cormier-Daire V et. al. (1996) Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes.

[^]
68.

Guzzetta V et. al. (1996) Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative Group.

[^]
69.

Seller MJ et. al. (1997) Phenotypic diversity in the Smith-Lemli-Opitz syndrome.

[^]
70.

Pauli RM et. al. (1997) Smith-Lemli-Opitz syndrome: thirty-year follow-up of "S" of "RSH" syndrome.

[^]
71.

Cunniff C et. al. (1997) Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism.

[^]
72.

Alley TL et. al. (1997) Physical mapping of the chromosome 7 breakpoint region in an SLOS patient with t(7;20) (q32.1;q13.2).

[^]
73.

Honda A et. al. (1997) Sterol concentrations in cultured Smith-Lemli-Opitz syndrome skin fibroblasts: diagnosis of a biochemically atypical case of the syndrome.

[^]
74.

Honda A et. al. (1997) Screening for abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome: rapid determination of plasma 7-dehydrocholesterol by ultraviolet spectrometry.

[^]
75.

Ness GC et. al. (1997) Increased expression of low-density lipoprotein receptors in a Smith-Lemli-Opitz infant with elevated bilirubin levels.

[^]
76.

Elias ER et. al. (1997) Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)

[^]
77.

Irons M et. al. (1997) Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial.

[^]
78.

Nwokoro NA et. al. (1997) Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome.

[^]
79.

Dehart DB et. al. (1997) Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndrome.

[^]
80.

Irons MB et. al. (1998) Prenatal diagnosis of Smith-Lemli-Opitz syndrome.

[^]
81.

Ryan AK et. al. (1998) Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.

[^]
82.

None (1998) RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis.

[^]
83.

Anderson AJ et. al. (1998) Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism.

[^]
84.

Atchaneeyasakul LO et. al. (1998) Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome.

[^]
85.

Kratz LE et. al. (1999) Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome.

[^]
86.

Andersson HC et. al. (1999) Adrenal insufficiency in Smith-Lemli-Opitz syndrome.

[^]
87.

Shackleton CH et. al. (1999) Equine type estrogens produced by a pregnant woman carrying a Smith-Lemli-Opitz syndrome fetus.

[^]
88.

Neklason DW et. al. (1999) Biochemical variants of Smith-Lemli-Opitz syndrome.

[^]
89.

Anstey AV et. al. (1999) Photosensitivity in the Smith-Lemli-Opitz syndrome: the US experience of a new congenital photosensitivity syndrome.

[^]
90.

Honda M et. al. (2000) Regulation of cholesterol biosynthetic pathway in patients with the Smith-Lemli-Opitz syndrome.

[^]
91.

Linck LM et. al. (2000) Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome.

[^]
92.

Battaile KP et. al. (2001) Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.

[^]
93.

Azurdia RM et. al. (2001) Cholesterol supplementation objectively reduces photosensitivity in the Smith-Lemli-Opitz syndrome.

[^]
94.

Tierney E et. al. (2001) Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome.

[^]
95.

Nowaczyk MJ et. al. (2001) Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada.

[^]
96.

Nowaczyk MJ et. al. (2001) Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome.

[^]
97.

None (2003) Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.

[^]
98.

WEBER JW et. al. (1960) [Typus Rostockiensis Ullrich-Feichtiger. Dyscranio-pygo-phalangia].

[^]
99.

SMITH DW et. al. (1964) A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

[^]
100.

PINSKY L et. al. (1965) A FAMILIAL SYNDROME OF FACIAL AND SKELETAL ANOMALIES ASSOCIATED WITH GENITAL ABNORMALITY IN THE MALE AND NORAML GENITALS IN THE FEMALE: ANOTHER CAUSE OF MALE PSEUDOHERMAPHRODITISM.

[^]
101.

Goldenberg A et. al. (2004) Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases.

[^]
102.

Jezela-Stanek A et. al. (2006) Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.

[^]
103.

Sikora DM et. al. (2006) The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome.

[^]
104.

Jiang XS et. al. (2010) Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications.

[^]